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Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to "Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma" by Cárcamo et al. 2022.

van der Sluijs, P J; Vergano, S A; Roeder, E R; Jongmans, M C J; Santen, G W E.

Eur J Med Genet ; 66(2): 104694, 2023 02.

Article in English | MEDLINE | ID: mdl-36592690

Subject(s)

Abnormalities, Multiple , Hand Deformities, Congenital , Hepatoblastoma , Intellectual Disability , Liver Neoplasms , Micrognathism , Child , Humans , Hepatoblastoma/genetics , Liver Neoplasms/genetics , DNA-Binding Proteins/genetics , Transcription Factors/genetics

[A neonate with soft tissue protruding through the umbilicus]. / Een neonaat met weefsel uit de navel.

van der Sluijs, P J; Sleeboom, Christien; Peetsold, Marieke G.

Ned Tijdschr Geneeskd ; 1642020 07 16.

Article in Dutch | MEDLINE | ID: mdl-32779920

ABSTRACT

A 6-week-old neonate presented with soft tissue protruding through the umbilicus due to a persisting ductus omphalo-entericus. This remnant was surgically removed the next day.

Subject(s)

Umbilicus/abnormalities , Vitelline Duct/abnormalities , Humans , Infant, Newborn , Umbilicus/surgery , Vitelline Duct/surgery

Letter regarding the article: "Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion".

van der Sluijs, P J Eline; Santen, Gijs W E.

Eur J Med Genet ; 63(4): 103813, 2020 04.

Article in English | MEDLINE | ID: mdl-31733398

Subject(s)

Hand Deformities, Congenital , Intellectual Disability , Micrognathism , DNA-Binding Proteins , Facies , Humans , Neck , Syndrome , Transcription Factors , Twins, Monozygotic

Subject(s)

ABSTRACT

Subject(s)

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